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FLASH GENE
Symbol PMS2 contributors: mct - updated : 05-05-2010
HGNC name PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
HGNC id 9122
DNA
TYPE functioning gene
STRUCTURE 35.87 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - PDGFA - D7S517 - PMS2 - D7S481 - cen
Physical map
LOC389459 7 LOC389459 FLJ11467 7p22.2 hypothetical protein FLJ11467 LOC392624 7 similar to hypothetical protein LOC285924 LOC392625 7 similar to ONCOMODULIN (OM) (PARVALBUMIN BETA) PBEF 7q11.23 similar to ONCOMODULIN (OM) (PARVALBUMIN BETA) C7orf28A 7p22.2 chromosome 7 open reading frame 28A ACTB 7p22 actin, beta LOC391998 7 similar to Calgizzarin (S100C protein) (MLN 70) LOC392946 LOC222967 7p22.2 hypothetical protein LOC222967 PMS2 7p22 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) FSCN1 7p22 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) TRIAD3 7p22.2 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) JTV1 7p22 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) HRI 7p22 heme-regulated initiation factor 2-alpha kinase USP42 7p22.2 ubiquitin specific protease 42 CD36 7q11.2 CD36 antigen (collagen type I receptor, thrombospondin receptor) PSCD3 7q21 pleckstrin homology, Sec7 and coiled-coil domains 3 SEMA3C 7q21-q31 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C LOC389460 7 similar to hypothetical protein LOC285924 C7orf28A 7p22.2 chromosome 7 open reading frame 28A FLJ36031 7q22.2 hypothetical protein FLJ36031 LOC222967 7p22.2 hypothetical protein LOC222967 MGC12966 7p22.2 hypothetical protein MGC12966 PMS2 7p22 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) RAC1 7p22 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) JTV1 7p22 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) LOC221955 7p22.2 KCCR13L HRI 7p22 heme-regulated initiation factor 2-alpha kinase KDELR2 7p22-p21 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 FLJ20306 7p22.2 hypothetical protein FLJ20306 LOC392861 7 similar to ribosomal protein L31 LOC392862 7 similar to GluR-delta2 philic-protein USP42 7p22.2 ubiquitin specific protease 42 PIK3CG 7q21.11 phosphoinositide-3-kinase, catalytic, gamma polypeptide PSCD3 7q21 pleckstrin homology, Sec7 and coiled-coil domains 3 ZDHHC4 7p22.2 zinc finger, DHHC domain containing 4 C7orf26 7p22.1 chromosome 7 open reading frame 26 LOC392626 7 similar to zinc finger protein 316; kruppel-related zinc finger protein; transcription factor MZF-3 LOC392627 7 LOC392627 PRKAR2B 7q22-q31.1 protein kinase, cAMP-dependent, regulatory, type II, beta ZNF325 7p22.2 zinc finger protein 325 MGC12966 7p22.2 hypothetical protein MGC12966 LOC392628 7 hypothetical gene supported by AB116525; NM_000535 RAC1 7p22 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) LOC221955 7p22.2 KCCR13L C7orf28B 7p22.2 chromosome 7 open reading frame 28B HBP1 7q22-q31 HMG-box transcription factor 1 LOC392863 7 similar to olfactory receptor MOR145-1 COG5 7q31 component of oligomeric golgi complex 5 KDELR2 7p22-p21 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 2851 95.7 862 - 1995 8666379
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestine    
Endocrinethyroid   highly
Lymphoid/Immunespleen   highly
Reproductivemale systemtestis  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialabsorptive excretorydigestive epithelium  
Epithelialbarrier/lininguroepithelium  
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a region of homology with other MutS or MutL homologs, comprising a region of 150 aminoacids encompassing
  • a putative helix-turn-helix domain associated with an adenine nucleotide and magnesium binding sites
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast mutator gene (bacterial mutL)
    Homologene
    FAMILY
  • DNA mismatch repair mutL/hexB family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • correctin of base-base mismatches and insertion-deletion loops resulting from DNA replication and recombination events
  • possessing an intrinsic low-level ATPase actvity
  • play a far more important role in Lynch syndrome than initially thought
  • its endonuclease activity has distinct biological functions and is essential for genome maintenance and tumor suppression
  • endonuclease function of PMS2 does not play an essential role in meiosis, but it is possible that the protein also contributes to checkpoint-signaling pathways during premeiotic S-phase and spermatogenesis
  • CELLULAR PROCESS cell cycle,division,meiosis
    nucleotide, repair, mismatch repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    mismatch repair
    a component
  • heterodimerizing with MLH1
  • essential component of DNA mismatch repair (MMR) complexes, which play an important role in maintaining genetic stability
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MLH1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HNPCC4 , CMMRD
    related resource International Group on Hereditary Non-Polyposis Colorectal Cancer
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in colon and uterus tumor
    Susceptibility to prostate cancer
    Variant & Polymorphism SNP , other
  • three SNP causing defective protein-protein interaction with MLH1
  • rare genetic variants that confer a high risk of prostate cancer when mutated
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS